耳聋、鱼鳞病样红皮病、角膜受累、畏光和牙齿发育异常。
Deafness, ichthyosiform erythroderma, corneal involvement, photophobia and dental dysplasia.
作者信息
Cremers C W, Philipsen V M, Mali J W
出版信息
J Laryngol Otol. 1977 Jul;91(7):585-90. doi: 10.1017/s0022215100084085.
PMID:408455
Abstract
Early childhood deafness, congenital non-bullous ichthyosiform erythroderma, corneal involvement, photophobia, chronic blepharoconjunctivitis, hypotrichosis, anhidrosis, hyperkeratosis of the nails and dental dysplasia were the symptoms observed in the 19-year-old girl described in this paper. The literature comprises reports on 8 patients with this syndrome, which McKusick (1975) listed as no. 24215.
摘要
本文所描述的这位19岁女孩出现的症状包括幼儿期失聪、先天性非大疱性鱼鳞病样红皮病、角膜受累、畏光、慢性睑结膜炎、毛发稀少、无汗、指甲角化过度及牙齿发育异常。文献中有关于8例该综合征患者的报道，麦库西克（1975年）将其列为第24215号。
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